KCNA2 Chromosome 1

Potassium voltage-gated channel subfamily A member 2
66 variants 66 Health Risk

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What This Gene Does
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000177301
Associated Conditions (13)
Developmental and epileptic encephalopathy
32
Inborn genetic diseases
See cases
Seizure
KCNA2-related disorder
Autism spectrum disorder
Global developmental delay
Neurodevelopmental disorder
1
Complex neurodevelopmental disorder
KCN2A-related disorder
Intellectual disability
Key Variants
RS1243868138
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS1553181398
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1570753974
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1649457143
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1649513909
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS200107528
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 32
Health Risk
RS2101396495
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS2101398407
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, See cases
Health Risk
RS2101399466
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS2524621109
Conflicting classifications of pathogenicity
Seizure, Developmental and epileptic encephalopathy, 32
Health Risk
RS371979518
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS746926057
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
All Variants (66)
RSID Category Clinical Significance Conditions
RS2524620000 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524621052 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524623169 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS762580714 Health Risk Pathogenic
RS786205231 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS786205232 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS876657390 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1064796294 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Seizure
RS1553181257 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1553181282 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1553181301 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1649509389 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101396301 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524616704 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS2524618796 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS876657389 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
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